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Article

Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany.

Thrombosis and haemostasis - 1 Apr 2018

Hassenpflug Wolf Achim, Obser Tobias, Bode Julia, Oyen Florian, Budde Ulrich, Schneppenheim Sonja, Schneppenheim Reinhard, Brehm Maria Alexandra

Abstract excerpt

Upshaw-Schulman syndrome (USS) is caused by severe ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) deficiency due to homozygous or compound heterozygous mutations in the ADAMTS13 gene. Previous studies suggest three possible disease mechanisms: (1) reduced secretion of ADAMTS13 variants, (2) impaired proteolytic activity, (3) defective biosynthesis due to...

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Identifiers

PMID: 29554699
DOI: 10.1055/s-0038-1637749

Genes

ADAMTS13

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany.PMID 29554699Read ↗

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